rs80357705
From SNPedia
Merged into | rs80357653 |
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
(G;G) | 0 | common in clinvar |
Make rs80357705(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 43070978 |
Gene | BRCA1 |
is a | snp |
is | mentioned by |
dbSNP | rs80357705 |
dbSNP (classic) | rs80357705 |
ClinGen | rs80357705 |
ebi | rs80357705 |
HLI | rs80357705 |
Exac | rs80357705 |
Gnomad | rs80357705 |
Varsome | rs80357705 |
LitVar | rs80357705 |
Map | rs80357705 |
PheGenI | rs80357705 |
Biobank | rs80357705 |
1000 genomes | rs80357705 |
hgdp | rs80357705 |
ensembl | rs80357705 |
geneview | rs80357705 |
scholar | rs80357705 |
rs80357705 | |
pharmgkb | rs80357705 |
gwascentral | rs80357705 |
openSNP | rs80357705 |
23andMe | rs80357705 |
SNPshot | rs80357705 |
SNPdbe | rs80357705 |
MSV3d | rs80357705 |
GWAS Ctlg | rs80357705 |
Status | Merged into rs80357653 |
Max Magnitude | 6 |
rs80357705, also known as 5055delG, c.4936_4936delG and p.Val1646Serfs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | |
Alt | |
Reference | Rs80357705(G;G) |
Significance | Pathogenic |
Disease | Familial cancer of breast Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | BRCA1 |
CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.41222995delC |
CLNSRC | Breast Cancer Information Core (BRCA1) |
CLNACC | RCV000048699.2, RCV000112428.2, RCV000130668.3, RCV000236929.2, |